Neuroimaging Features of Biotinidase Deficiency
AJNR 44:328-333, Biswas,A.,et al, 2023
Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Cystic Periventricular Leukomalacia and Type of Cerebral Palsy in Preterm Infants
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Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
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Neurological Deterioration in Young Adults with Phenylketonuria
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Alexander's Disease, A Disease of Astrocytes
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